Benchmarking low-frequency variant calling with long-read data on mitochondrial dna

HIGHLIGHTS

  • who: Theresa Lu00fcth and colleagues from the Institute of Neurogenetics, University of Lu00fcbeck and University Hospital Schleswig-Holstein, Lu00fcbeck, Germany, Luxembourg have published the research work: Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA, in the Journal: (JOURNAL)
  • what: The authors investigate whether Oxford Nanopore Technologies(ONT) achieves the base-calling accuracy needed for low-frequency variant calling. The authors deeply investigate low-frequency variants calling for long-read data, as it is of great importance to investigate heteroplasmy and somatic variants accurately. For the comparison, the authors focused on the . . .

     

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